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  • Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations 

    Nishino, I.; Spinazzola, A.; Papadimitriou, A.; Hammans, S.; Steiner, I.; Hahn, C. D.; Connolly, A. M.; Verloes, A.; Guimaraes, J.; Maillard, I.; Hamano, H.; Donati, M. A.; Semrad, C. E.; Russell, J. A.; Andreu, A. L.; Hadjigeorgiou, G. M.; Vu, T. H.; Tadesse, S.; Nygaard, T. G.; Nonaka, I.; Hirano, I.; Bonilla, E.; Rowland, L. P.; DiMauro, S.; Hirano, M. (2000)
    Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe gastrointestinal dysmotility; cachexia; ptosis, ophthalmoparesis, or both; peripheral neuropathy; ...